Familial Cancer

, Volume 7, Issue 2, pp 173–177 | Cite as

Gonadal mosaicism and familial adenomatous polyposis

  • Angela L. Schwab
  • Thérèse M. F. Tuohy
  • Michelle Condie
  • Deborah W. Neklason
  • Randall W. Burt


De novo mutations in the adenomatous polyposis coli (APC) gene are estimated to constitute approximately 25% of familial adenomatous polyposis (FAP) cases. A small percentage of these arise in the mosaic form, affecting only a subset of cells in the affected individual. A family is described here whereby an unaffected mother with no detectible mutation in APC, transmitted the identical APC c.4729G>T (p.Glu1577X) mutation to two children. A third child, with the same APC allelic haplotype received a normal APC allele, suggesting that the mutation originated in the gonadal tissues of the mother. These results underscore the utility of mutation-specific genetic testing for the parents and siblings of a proband of an adult-onset disease, even if the proband appears to have a de novo mutation. Parents who test negative for the mutation should be counseled about the possibility of having another affected child due to gonadal mosaicism.


Familial adenomatous polyposis (FAP) Gonadal mosaicism De novo mutation Adenomatous polyposis coli (APC) 


Familial adenomatous polyposis


Adenomatous polyposis coli



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Copyright information

© Springer Science+Business Media B.V. 2007

Authors and Affiliations

  • Angela L. Schwab
    • 1
  • Thérèse M. F. Tuohy
    • 1
  • Michelle Condie
    • 1
  • Deborah W. Neklason
    • 1
    • 2
  • Randall W. Burt
    • 2
    • 3
  1. 1.Huntsman Cancer InstituteUniversity of UtahSalt Lake CityUSA
  2. 2.Department of Oncological SciencesUniversity of UtahSalt Lake CityUSA
  3. 3.Department of MedicineUniversity of UtahSalt Lake CityUSA

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